ARTICLE

Early Identification ofTethered Cord Syndrome:A Clinical Challenge

Tiffany Sanchez, MS, CPNP, & Rita Marie John, EdD, DNP, CPNP, CMHS

ABSTRACTTethered cord syndrome (TCS) is a progressive clinical con-dition that arises from excessive spinal cord tension. Theclinical signs and symptoms of TCS may be cutaneous, neu-rologic, musculoskeletal, genitourinary, and/or gastrointesti-nal. Patients also may be asymptomatic, which does notexclude the diagnosis of TCS. Although the exact etiologyis unknown, early identification and lifelong surveillance orsurgical treatment is an essential component of patient man-agement. In this article we review the pathophysiology, var-ious etiologies, clinical presentation, and long-term sequelaeof TCS. This information will help pediatric nurse practi-tioners identify TCS early and anticipate the patient’s needsand management requirements. J Pediatr Health Care.(2014) 28, e23-e33.

KEY WORDSTethered cord syndrome, pediatrics, spinal dysraphism,scoliosis, diagnosis, treatment, outcome

Although it is rare, tethered cord syndrome (TCS) isone of the most common pediatric spinal disorders(Lad, Patil, Ho, Edwards, & Boakye, 2007). A tetheredcord is defined as a progressive functional disorder

Tiffany Sanchez, Pediatric Nurse Practitioner, School of Nursing,Columbia University, New York, NY.

RitaMarie John, Assistant Professor, School of Nursing, Columbia

University, New York, NY.

Conflicts of interest: None to report.

Correspondence: Tiffany Sanchez, MS, CPNP, 630 W 168th St,

New York, NY 10032; e-mail: tssanche@gmail.com.

0891-5245/$36.00

Copyright Q 2014 by the National Association of PediatricNurse Practitioners. Published by Elsevier Inc. All rights

reserved.

Published online August 9, 2013.

http://dx.doi.org/10.1016/j.pedhc.2013.06.007

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caused by an abnormal pathologic fixation of the spinalcord in the vertebral column (Hsieh, Perry, Gupta,Pearson, & Nguyen, 2006). The incidence of TCS is es-timated at 0.25 per 1000 births and is more commonin females (Bademci et al., 2006; McGirt et al., 2009).In the past, the diagnostic criteria for TCS wasdetermined by a conus medullaris below the L1-L2space and/or a filum terminale >2 mm in thickness.The diagnostic criteria has evolved, and it is now de-fined as afixationof the spinal cord to the spinal columnas a result of primary (congenital) or secondary (ac-quired) conditions, such as spinal dysraphism (i.e., con-genital anomalies), physiologic conditions (e.g., thickfilum terminale), anatomic conditions (e.g., low conusmedullaris), or retethering as a result of a previousspinal surgery. Although diagnosis is confirmedthrough spinal imaging, recent studies have revealedthat history and physical examination are often thehallmarks of diagnosing TCS (Filippidis, Kalani,Theodore, & Rekate, 2010; Lew & Kothbauer, 2007;Venkataramana, 2011). Because of the complexity ofthis condition and the lack of clear guidelines,diagnosis and management are often challenging.In this article we discuss the embryology,pathophysiology, etiology, and symptomatology ofTCS and the role of the pediatric nurse practitioner(PNP) in diagnosing and managing patients with TCSin a primary care setting.

EMBRYOLOGYTo appreciate the subsequent pathophysiology associ-ated with TCS, it is essential to understand the threestages of embryological development contributingto normal spinal development. Embryologic errorsmay occur during any of the three stages: gastrulation,primary neurulation, and secondary neurulation.Figure 1 provides an illustration of the followingdiscussion.

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FIGURE 1. Spinal cord development. (Imageby Chris Montague. Printed with permission.)

GastrulationGastrulation is a period of cellular proliferation and mi-gration of the ectoderm (one of the three germ layers)during weeks 2 and 3 of gestation. During this embry-onic stage, the neural tube forms from folding of theneural plate. The neural tube begins to close by day22 to 23 in a cephalo-caudal fashion with full closureof the posterior neuropore by day 25 to 27 (Hertzler,DePowell, Stevenson, & Mangano, 2010). At the con-clusion of this stage, the forming notochord serves asthe building block of the axial skeleton. Abnormal fu-sion of the germ layers during this stage may result incongenital malformations such as split cord malforma-

TABLE 1. Definition of commonly used terminology

Terminology

Anterior sacral meningocele A presacral herniation ofcolumn and often foun

Caudal agenesis Agenesis of the caudal pCauda equina A bundle of nerve roots (Conus medullaris The caudal end of the spDysraphism Incomplete closure of theLipoma A mass composed of sub

displace the spinal corVentriculus terminalis A cystic structure that wil

Data from Hertzler et al., 2010; Lew & Kothbauer, 2007; and Rossi et a

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tion or a sacral meningeal cyst (Rossi et al., 2006). Def-initions of select terms are provided in Table 1.

Primary NeurulationPrimary neurulation is a process in which the neuroec-toderm is formed from the interaction of the ectodermand notochord during weeks 3 to 4 of gestation. Ini-tially, the neuroectoderm lies flat; however, foldingalong the midline in a bidirectional fashion forms theneural tube. By day 27, full closure of the neural tubein the lumbar region (L1-L2) is attained and is referredto as the caudal neuropore. Failure of neural tube clo-sure results in open spinal dysraphism such as menin-gocele, lipomyelomeningocele, dermal sinus tract,myelomeningocele, myelocele, split cord malforma-tions, or intraspinal lipoma. The severity and extent ofneurologic impairment is correlated with the locationand degree of the malformation. A worse prognosis islikely when the lesion is higher on the spinal cord(Bui, Tubbs, & Oakes, 2007; Hertzler et al., 2010;Rossi et al., 2006; Venkataramana, 2011).

Secondary NeurulationSecondary neurulation follows the conclusion of pri-mary neurulation and continues until day 48 of gesta-tion. This stage is marked by the formation of thecaudal tube from undifferentiated cells below the pos-terior neuropore. During this stage, the distal neuraltube is formed via fused vacuoles that are derivedfrom the caudal cell mass. Before the end of thisstage, the ventriculus terminalis is formed at thecoccygeal level and serves as a marker for the conusmedullaris (Lew & Kothbauer, 2007; Rossi et al.,2006). After secondary neurulation, regression occursand continues into the early postnatal period. Theterminal spinal cord undergoes changes, forming thecauda equina and filum terminale. As the vertebralcolumn lengthens during periods of growth, the filumterminale elongates and the conus medullaris beginsto ascend. By 2 months of age, the conus medullarisis in its normal adult position at L1-L2, with some nor-mal variation (Bui et al., 2007; Lew & Kothbauer,2007). Disruption during this stage is attributed to

Definition

a cerebral spinal fluid filled sac that protrudes through the vertebrald in patients with caudal agenesis (Rossi et al., 2006)ortion of the spine that may be total or partial (Rossi et al., 2006)Hertzler et al., 2010)inal cord (Lew & Kothbauer, 2007)neural tube with malformation of the spinecutaneous fat contained within a dural sac that may laterallyd (Rossi et al., 2006)l be the future site of the conus medullaris (Lew & Kothbauer, 2007)

l., 2006.

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abnormalities of the mesenchymal tissue and epidermisresulting in occult (closed) spinal dysraphisms, such aslipoma, caudal agenesis, low conusmedullaris, anteriorsacral meningocele, or tethered cord (Rossi et al., 2006;Venkataramana, 2011).

PATHOPHYSIOLOGYThe filum terminale is an elastic band that stabilizes theconusmedullaris and enables it to hang freely andmoveduring normal and abnormal flexion/extension of thespine and during skeletal growth (Figure 2). When thenormal elasticity of this structure is compromised, in-creased tension and stress is placedon the conusmedul-laris. This phenomenon is thought to prevent the conusmedullaris fromascending to its normal adult position atL1-L2 by 6 months of age, resulting in secondary (ana-

FIGURE 2. Posterior view of spinal cord,nerves, conus medullaris, and filum terminale.(Image by Chris Montague. Printed withpermission.)

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tomic) cord tethering in which the spinal cord fixatesto the spinal column. Over time, stretching of the fixedspinal cord causes biochemical and electrophysiologicchanges that damage the blood vessels, nerve fibers,and nerve cells in the spinal cord (Bademci et al.,2006; Bui et al., 2007; Kang, 2008; Selden, 2007).The underlying pathophysiologic effects of the TCS

are best explained by the ischemic hypothesis(Yamadaet al., 2007). The results of theworkofYamadaand colleagues suggested that the degree of caudal trac-tion decreases blood flow and oxidative metabolism,resulting in cellular hypoxia and eventually ischemic in-jury. This disrupts oxidativemetabolism causes a shift inthe redox ratio by reducing cytochrome a,a3 and aden-osine triphosphate, which ultimately impairs nervefunction (Kang, 2008; Stetler, Park, & Sullivan 2010;Yamada & Won, 2007). The functional changessupported by the ischemic phenomenon affects thelower motor neurons, manifesting as dysfunction andsymptomatology in the lower extremities (Husain &Shah, 2009; Macejko et al., 2007).Follow-up studies reveal that surgical untethering

may result in varying degrees of neurologic recoveryby reversing the decreased metabolic status and im-proving oxygenation. The degree of reversibility islargely based on the degree and duration of spinalcord traction. Therefore patients with mild to moderatetraction often experience complete recovery, whereassevere traction often result inminimal or incomplete re-covery (Filippidis et al., 2010; Yamada et al., 2007).

ETIOLOGYThe exact etiology of cord tethering is extensive and notwell understood but likely is influenced by genetic andenvironmental factors. The following section will dis-cuss primary and secondary conditions associatedwith TCS.

Risk Factors

MyelomeningoceleSpina bifida refers to any birth defect involving incom-plete closure of the spine. Myelomeningocele is themost common type of spina bifida andoften requires re-pair soon after birth. Hertzler et al. (2010) stated that upto 32% of these persons experience cord retethering asa result of scar tissue anchoring the spinal cord and pre-venting it from ascending. This phenomenon is mostcommonly seen between the ages of 5 and 9 yearswhen the vertebral column rapidly lengthens, resultingin spinal cord tension, but it can occur at any age fromsudden stretching or repetitive movements (Hertzleret al., 2010).

ScoliosisThe incidence of tethered spinal cord and other spinalcord anomalies is estimated to be 20% in persons with

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TABLE 2. Congenital syndromes associated with tethered cord syndrome

Syndrome Clinical manifestations Genetic association

Rubinstein-Taybi syndrome Gait abnormalitiesShort statureShort limbsCharacteristic faciesDevelopmental delayTethered spinal cord

Chromosome 16

VACTERL Vertebral malformations (including tetheredcord syndrome)

Anal atresiaCardiac anomaliesTransesophageal fistulaRenal anomaliesLimb abnormalities

Deletions of GLI2 and GLI3

transcription genes

Data from O�Neill et al., 2010, and Tanaka et al., 2006.

congenital or juvenile scoliosis. Some patients mayhave aminor degreeof cord traction and remain asymp-tomatic throughout most of early childhood. This sub-set of patients often present in adolescence or later inlife with neurologic deficits likely induced by repeatedfactors aggravating the spine, such as spinal stenosis,trauma over time, an increase in physical activity, orpregnancy (Hertzler et al., 2010).

Genetic AssociationRecent genetic and twin studies suggest that TCSmay be genetically inherited. Mitsuka, Horikoshi,Watanabe, & Kinouchi (2009) described two 11-year-old identical twin boys with complaints of unremittingleg pain within 11 months of each other. Magnetic res-onance imaging (MRI) revealed a normal-lying conusmedullaris and fatty filum terminale in both cases, sug-gesting a genetic association. Bassuk et al. (2005) foundan association between the TBX1 gene located in the22q11.2 locus andTCS. Findings suggest that amissensemutation in TBX1 or a deletion of 22q11.2 present withabnormalities in the caudal spine (Bassuk et al., 2005;Filippidis et al., 2010). This deletion is among themost common and is estimated to exist in 1:2000 per-sons. Although a deletion 22q11.2 is most notable forbeing associated with congenital heart diseases, thisgene is highly variable and has been associated with180 various anomalies (Robin & Shprintzen, 2005). Itis important for PNPs to consider TCS in patients with22q11.2 deletion syndromes or TBX1 mutations orwhose siblings are affected.

Congenital SyndromesSeveral congenital syndromes are associated with TCS(see Table 2). Rubinstein-Taybi syndrome is a rare con-dition associated with mutations that affect chromo-some 16. This gene is responsible for regulatingcellular division and cellular growth and is a centralcomponent for normal fetal development (Tanaka,

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Ling, Rubinstein, & Crone, 2006). VACTERL association(Vertebral anomalies, Anal atresia, Cardiac defect, Tra-cheo Esophageal fistula, Renal abnormalities, andLimb abnormalities) is associated with deletions ofGLI2 and GLI3 transcription genes. In a retrospectivestudy of infants with VACTERL, 39% were diagnosedwith TCS via ultrasound screening during the neonatalperiod and required cord untethering. Several studiessuggest an increased incidence of TCS if a transesopha-geal fistula, anal atresia, imperforate anus, or urogenitalanomaly is present (Kuo et al., 2007; O�Neill, Yu, &Tyler-Kabara, 2010). Persons with a genetic syndromeoften present with severe developmental delays orsymptoms overlapping with other conditions thatare often treated independently of TCS. PNPs need toconsider TCS when caring for patients with thesesyndromes.

HISTORYA clinical history suggestive of TCS varies based on age,onset of symptoms, and the underlying cause (Table 3).In neonates and toddlers, cutaneous stigmata may bethe only indication of a tethered spinal cord; however,other features consistent with TCS may exist (Lew &Kothbauer, 2007). A history remarkable for decreasedlower extremity movement or failure to meet develop-mental milestones suggests the presence of neurologicsymptoms. A history of urinary dribbling, decreaseddryperiods between diaper changes, or frequent accidents(i.e., enuresis or encopresis) in a previously pottytrained toddler suggests genitourinary and/or gas-trointestinal disturbances. According to Hertzler andcolleagues (2010), it is difficult to detect in infants andtoddlers who have not gained full continence (i.e., arenot potty trained) or lack the ability to communicatesuch complaints (Hertzler et al., 2010; Lew &Kothbauer, 2007).In young children and adolescents, neurologic dete-

rioration is a commonmanifestation. The young child’s

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TABLE 3. Relevant history questions and vital components of the physical examination

System Pertinent history questions Physical examination

General 1. Has a past or recent trauma occurred? If so, explore the cause and timing2. Does the patient have a history of spinal surgery? If so, why was it performed,and when?

3. Obtain a history of any sports or physical activities the child has participated inand the length of participation

Cutaneous 1. Does the patient have any history of tufts of hair, nevi, dimples, orhemangiomas in the newborn or infant period? If so, was any surgicaltreatment performed?

Examine the dorsal spine; assess for midline stigmata such as sacral dimples,tufts of hair, hypertrichosis, hemangiomas, dimple, lipoma, dermal sinus tract,or other cutaneous stigmata; assess for atretic meningocele and lumbosacralskin appendages

Neurologic 1. Does the patient have any changes in muscle tone, especially in the calf andbuttock region?

2. Does the patient have any changes in the ability to extend (kick) the lowerextremities?

3. Has the patient had any delay in motor milestones, such as walking? Does heor she have an unsteady gait, drag one or both feet when walking, have a widestance when ambulating, or exhibit clumsiness?

4. Are there any changes in sensation in the lower extremities?5. Does the patient have pain? If so, ask him or her to take one finger and point towhere he or she feels pain

6. If pain is present, is it made worse by back extension or flexion? Explore painusing the PQRST (provokes, quality, radiates, severity, time) method

7. Does the patient have a history of ulcerations on the lower extremities, and ifso, do the ulcerations heal?

Assess motor abilities: decreased deep tendon reflexes, spasticity, clonus,Babinski reflex, gait disturbances; assess sensory disturbances in olderchildren: proprioception, light touch, painful stimulation (pinprick), skip lesions;assess for decreased sensation in the perineal region, activity level notconsistent with age, or developmental milestones not consistent with age;look for painless skin ulcerations; observe for gait disturbances

Musculoskeletal Infant/toddler:1. Explore developmental milestones with respect to standing and walking: ageof standing, first step, difficulty walking, and decline in previously attained skills

School-age child/adolescent:1. Does the patient have a history of scoliosis, and if so, what was the age atdiagnosis, and has any treatment been provided?

2. Has the patient had any difficulties with walking or running?

Assess the dorsal spine for any evidence of scoliosis, kyphosis, or lordosis;assess the lower extremities for orthopedic deformities (e.g., clubfoot,hammer ties, talipes, and arches), leg length discrepancy, hip subluxation andankle imbalance; assess muscles (calf and buttocks) for symmetry or signs ofatrophy; look for asymmetric muscle weakness

Genitourinary andgastrointestinal

Infants:1. Ask parent(s)/caregiver if there are any dry periods between diaper changesToddlers:1. Has the child started to toilet train?2. Does the child experience accidents during the day or at night?School-age child/adolescent:1. Does the child experience frequent urina?2. Does the child experience difficulty with bladder or bowel control during theday, night, or both? Explore symptoms of frequency, urgency, poor voluntarycontrol, and incomplete voiding

3. Does the child have a history of constipation?

Check for anorectal malformations and sphincter disturbances: lack of anal wink(difficult to detect in children <1 year); ask about dribbling

Data from Michelson & Ashwal, 2004 (regarding history questions) and Lew & Kothbauer, 2007 (regarding the physical examination).

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history may be remarkable for gait disturbances (e.g.,wobbly gait, wide gait, or delayed ambulation), de-

The young child’shistory may beremarkable for gaitdisturbances (e.g.,wobbly gait, widegait, or delayedambulation),delayedmilestones, orregression ofpreviously attainedmilestones.

layedmilestones, or re-gression of previouslyattained milestones.Conversely, older chil-dren and adolescentsmay report progres-sion of motor distur-bances as evidencedby a history of asym-metrical lower extrem-ity weakness, gaitdisturbances (e.g.,a clumsy leg or drag-ging of the affectedfoot), or difficultyrunning (Lew &Kothbauer, 2007). Ahistory of functional

FIGURE3. Lumbosacral cutaneous stigmata ina 2-month-old girl with split cord malformationand tethered cord syndrome. (Image courtesyof Dr. Rita Marie John. Reprinted withpermission.)

changes to the genitourinary and gastrointestinal sys-tem includes fecal incontinence, constipation, urinaryincontinence, urinary frequency, urinary urgency, uri-nary retention, or recurrent urinary tract infection(Hertzler et al., 2010; Pinter & Bognar, 2009).

A history of pain is common in the adolescent andadult population but is rare in young children. It hasbeen hypothesized that children younger than 6 yearslack the ability to localize pain and communicate thismanifestation. If a young child reports pain from TCS,it is often insidious, poorly localized, confined to the sa-cral region, and rarely radiates to the lower extremities.Conversely, more than 90% of school-age children, ad-olescents, and adults aged between 7 and 25 years ex-perience unrelenting nondermatomal pain, describedas a shock-like feelingwith localization to the lower ex-tremities, lumbosacral spinal region, or perineal region(Kang, 2008; Kang et al., 2009; Lew&Kothbauer, 2007).Although pain is almost always a universal symptom inadolescents, young children may still describe painusing unfamiliar vocabulary or unusual behavior.Table 3 provides a list of relevant history questionsbased on system and age.

PHYSICAL ASSESSMENTPhysical assessment is vital for diagnosis, and findingsvary based on the child’s age (Table 3). The physical as-sessment allows the provider to detect deterioration be-cause patients may present with one or more clinicalmanifestations from the following systems.

Cutaneous StigmataCutaneousmanifestations are among themost commonphysical findings consistent with TCS and are present inapproximately 59% of patients, with 3% being neonates(Bui et al., 2007). This coexistence is caused by theircommon origin from the ectoderm (Drolet et al.,

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2010). Cutaneous stigmata are often seen midline inthe lumbosacral region and may include subcutaneouslipoma, midline hypertrichosis, hemangioma, dermalsinus tracts, dermal pit, masses, asymmetrical glutealcrease, atretic meningocele, or lumbosacral skin ap-pendages as illustrated in Figure 3 (Hertzler et al.,2010; Lew & Kothbauer, 2007).

Neurologic ManifestationsNeurologic deterioration is attributed to impaired nervefunction and metabolic function of gray matter in thelumbosacral region of the spinal cord. Patients withTCS often experience one or more signs of neurologicdeterioration (Al-Holou, Muraszko, Garton, Buchman,& Maher, 2009; Michelson & Ashwal, 2004). Neu-rologic dysfunction may consist of motor or sensorydeficits, with the former being more common. Onphysical examination, lower motor neuron signs ofdecreased reflexes may be present, which are oftenunilateral and reflect involvement of the cortico-spinaltract. Other signsmay include abnormal gait, decreasedtone, or abnormal reflexes (i.e., upward going Babinskireflex). Although they are less common, sensorydeficits to the lower extremities present in a nonseg-mental patchy pattern (i.e., a decreased sensation to

Journal of Pediatric Health Care

BOX 2. Indications for imaging with regard tolumbosacral lesionsa

1. Sacral dimples that are >0.5 mm, extend through thedural/subarachnoid space, and are located abovethe gluteal crease

2. Midline mass near L53. Hemangioma4. Midline hypertrichosis5. Asymmetrical gluteal creaseData from Hertzler et al., 2010; Lew & Kothbauer, 2007;and Splete, 2007.aRule of thumb: All midline lesions are suggestive ofa spinal anomaly until proven otherwise.

BOX 1. Differential diagnosis of tethered cordsyndrome

Neoplastic diseases� Ependymoma� Astrocytoma� Medulloblastoma/primitive neuroectodermal tumors� Intracranial germ cell tumorsInfectious diseasesInflammation resulting from traumaInherited degenerative diseases� Spinocerebellar degeneration� Sensory neuropathy� Friedreich ataxiaNeurologic condition� Demyelinating condition� Global developmental delay

Data from Michelson & Ashwal, 2004.

light touch, temperature, and pinprick), and painlessulcerations on the perineum or feet may be present(Bui et al., 2007; Kang, 2008; Lew & Kothbauer, 2007;Michelson & Ashwal, 2004).

Musculoskeletal ManifestationsMusculoskeletal changes are present in 90% of patientswith TCS,with foot deformities being themost common(Bui et al., 2007). These changes are attributed to mus-cle tone imbalance in the lower extremities. The lowerextremities should be evaluated for foot asymmetry,foot deformities (e.g., high arches or club foot), glutealasymmetry, leg length discrepancy, or hip subluxation.Muscular atrophy may be apparent but is less visible ininfants because of excess subcutaneous fat (Michelson& Ashwal, 2004). Evaluation of the spine for vertebralabnormalities may reveal abnormal curvature, whichis estimated to be present in up to 25% of personswith intraspinal pathology. This clinical presentationis diagnosed as idiopathic left thoracic scoliosis that rap-idly progresses in a child younger than 11 years, withpain as the primary manifestation (Hertzler et al.,2010; McGirt et al., 2009; Michelson & Ashwal, 2004).Although many of these signs may be attributed toother etiologies, surgical untethering has proven tosuccessfully improve symptoms. An underlying spinalcord anomaly or worsening TCS should be con-sidered in persons with musculoskeletal deformitiesor progressive clinical deterioration.

Genitourinary and GastrointestinalManifestationsBladder and bowel dysfunction are two manifestationsresulting from disrupted sphincter innervation (O�Neillet al., 2010). Abnormalities may vary from subclinicalpresentation that is only detectable though urodynamicstudies to severe dysfunction based on patient history

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(Bui et al., 2007). Although an anorectal malformationmay be present on physical examination, detectionmay be based solely on abnormal urodynamic stud-ies (O�Neill et al., 2010; Pinter & Bognar, 2009). Theability to distinguish between neurogenic and non-neurogenic bowel and bladder dysfunction is critical.

DIFFERENTIAL DIAGNOSISVery minor differences in a patient’s history and physi-cal examination may distinguish the diagnosis of TCSfrom another disorder (Box 1). These conditions oftenaffect the lumbosacral spinal cord and present withchanges in deep tendon reflexes and/or progressivelower extremity weakness during childhood. Basedon the overlap in clinical presentation, a diagnosis ofTCS often remains inconclusive until imaging studiesare performed to exclude other possible causes(Michelson & Ashwal, 2004).

DIAGNOSISIn the vast majority of pediatric patients, the diagnosisof TCS is based on a high index of suspicion obtainedfrom a detailed history and physical examination.Clinical evidence of cutaneous stigmata, neurologicmanifestations, musculoskeletal manifestations, orgenitourinary/gastrointestinalmanifestations consistentwith TCS should be confirmed with diagnostic studies.Midline spinal lesions are seen in 70%of personswith

closed spinal dysraphism, which may be an underlyingcause of TCS (Pinter & Bognar, 2009). Although com-mon, not all lesions are suggestive of a spinal anomaly,and therefore it is important that the PNP be familiarwith indications for imagingwith regard to lumbosacrallesions. All midline lesions are suggestive of a spinalanomaly until proven otherwise (Box 2). Indications in-clude sacral dimples that are >0.5 mm deep, extendthrough the dura/subarachnoid space, and are locatedabove the gluteal crease; a midline soft mass near L5,which may suggest a lipomyelomeningocele; a heman-gioma, which may suggest an intradural anomaly; mid-line lumbar hypertrichosis; and an asymmetric gluteal

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Surgicalmanagement isoftenrecommended inthe pediatricpopulation toprevent furtherneurologicdeterioration andpossibly reverse,stabilize, orimprovesymptoms.

crease. However, non-midline lesions and sacral dim-ples in the natal cleft region are often benign and donot require diagnostic imaging (Hertzler et al., 2010;Lew & Kothbauer, 2007; Splete, 2007).

Diagnostic Imaging StudiesMultiple diagnostic neuroimaging studies may be per-formed to provide the clinicianwith findings associatedwith TCS. Plain radiographs are readily available andprovide the clinicianwith information regarding the ex-istence of vertebral anomalies; however, they are notroutinely performed because of their low sensitivityand specificity. Infants younger than 3 months mayhave incomplete ossification, and ultrasonography isused as the first-line screening method to evaluate thespinal cord.

Ultrasonography is an inexpensive and effectivescreening tool for determining the level of the conusmedullaris or to investigate underlying spinal dysra-phism in infants younger than 3 months. Althoughthis technique does not expose the infant to radiation,interpretationof results is entirely dependent on the op-erator. Beyond 3 months of age, the conus medullarisascends in the spinal column to the L1-L2 region andis no longer visible because of vertebral ossification(Bademci et al., 2006; Bui et al, 2007; Lew &Kothbauer, 2007; Miyasaka et al., 2009). If ultrasoundfindings are abnormal, an MRI should be performed(Ben-Sira, Pogner, Miller, Beni-Adani, and Constanti,2009; Schenk et al, 2006).

MRI is the gold standard imaging for the evaluationand diagnosis of intraspinal pathology in persons3 months of age and older. MRI of the lumbosacral spi-nal region is used to determine the anatomic cause ofspinal tethering, motion of the spinal cord, the levelof the conus medullaris, and to identify the nature ofthe filum terminale (Bademci et al., 2006; Miyasakaet al., 2009; Pinter & Bognar, 2009). Recent studiesshow that there is a high correlation of TCS withimperforate anus or lumbosacral hemangioma duringinfancy, and it is recommended that these persons bescreened with MRI (Drolet et al., 2010; Miyasaka et al.,2009; Tarcan et al., 2012). Computed tomographyscans may be used in conjunction with MRI toevaluate the septum if spinal tethering is attributed tosplit cord malformation or to evaluate the anatomy ofthe bone (Lew & Kothbauer, 2007). Although MRI andcomputed tomography scans are useful in determiningthe anatomic and pathologic conditions of the distalspine, children routinely require sedation to obtainquality results.

UrodynamicsAs previously stated, urologic dysfunction is a prevalentsymptom in the pediatric population (Pinter & Bognar,2009; Stavrinou et al., 2010). These findings are difficultto diagnose from clinical presentation or history alone.

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Urodynamic studies have been deemed a usefulassessment for determining sphincter dysfunction inchildren with urologic symptoms or subclinicalsymptoms with high suspicion of TCS (Hsieh et al.,2006). Urodynamic studies are routinely undertakenin the vast majority of patients diagnosed with TCS, in-cluding infants, because they provide an objective as-sessment both before and after surgery. They alsodetect further deterioration when supportive treatmentis suggested (Hertzler et al., 2010; Selden, 2007).

CURRENT MANAGEMENT OF TCSDespite the morbidity associated with TCS and im-proved diagnostic studies to better understand the eti-ology, a search of National Guidelines Clearing Housedid not produce any specific guidelines for the treat-ment of pediatric patients. The type of management islargely based on the patient’s age, clinical presentation,and institutional protocol. Although a fine line existsbetween treatment approaches, the ultimate goal is tominimize symptoms and risks associated with the teth-ered spinal cord.

Surgical ManagementSurgical management is often recommended in thepediatric population to prevent further neurologic de-terioration and possibly reverse, stabilize, or improvesymptoms. Several authors suggest that patients with

a spinal dysraphism,low-lying conus me-dullaris, fatty filumterminale, and/or pro-gressive clinical de-terioration are idealcandidates for spinalcord untethering(Bowman, Mohan, Ito,Seibly, &Mclone, 2009;Drake, 2007; Ostling,Bierbrauer, & Kuntz,2012). The goal ofsurgery is to promotespinal cord movementby relieving tension,decreasing cellular hy-poxia, and improvingcellular conduction (Gupta, Heary, & Michaels, 2010; Husain & Shah,2009; Metcalfe et al., 2006). Although evidence isconflicting on an optimal time to perform spinalcord untethering, Lew & Kothbauer (2007) sug-gested that early intervention provided the bestoutcome in terms of neurologic functioning, urologicfunctioning, postsurgical complications, risk forinfection, and risk for neural damage. Earlydiagnosis by the primary care PNP and referral toneurosurgery and the neurosurgical PNP allows

Journal of Pediatric Health Care

FIGURE 4. Diagnosis and management flowchart for the pediatric nurse practitioner (PNP). CT,Computed tomography; MRI, magnetic resonance imaging.

communication between the specialty PNP and theprimary care PNP.

LONG-TERM SEQUELAEThe prognosis of TCS is variable based on the etiologyof each individual. Recent clinical studies suggestedthat further deterioration is imminent in the pediatricpopulation and that the diagnosis of TCS alone shouldbe an indication for surgery (Bui et al., 2007; Cornipset al., 2011). One study suggested that tethered cordrelease provides immediate clinical improvement inurologic symptoms (72%) and fecal symptoms (91%)in pediatric patients (Metcalfe et al., 2006). Other stud-ies have suggested that tethered cord release halts curveprogression or provides curve stabilization in patientswith scoliosis once skeletal maturity has been achieved(McGirt et al., 2009;Mehta et al., 2011; Samdani, Asghar,Pahys, Andrea, & Betz, 2007). Conversely, 26% whounderwent surgery for a spinal dysraphism or corduntethering experienced symptomatic retethering(Samuels et al., 2009). The prevalence is highest duringages 6 and 13 years when the spinal cord remains an-chored at the previous surgical repair site as the childgrows (Al-Holou et al., 2009).

ROLE OF THE PEDIATRIC NURSEPRACTITIONERApproximately 75% of pediatric patients with TCS ex-perience a constellation of deficits that increase pro-gressively with age. Because multiple systems are

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involved, the clinical symptoms may initially be treatedindependently of TCS (Gupta et al., 2010). Because ofthe risks associated with untreated TCS, it is imperativethat PNPs correctly identify patients with TCS.If the PNP has a high index of suspicion of TCS based

on a thorough history and physical examination(Table 3), an MRI (which is the gold standard) shouldbe performed to view the spinal anatomy, cause of teth-ering, and extent of damage to surrounding tissue. If thefindings are consistent with TCS, a referral to a neuro-surgeon is indicated to prevent further deterioration,especially in young children who have not yet attainedfull skeletalmaturity. The acute care PNP specializing inneurosurgery plays an active role in the care of these pa-tients. Communication between the primary and acutecare PNP canhelp families understand themanagementof the patient. Joint referral to other subspecialistsshould be arranged when indicated, and appropriatediagnostics should be performed. Specialists mayinclude orthopedic surgeons, neurologists, urologists,rehabilitation medicine practitioners, and/or gastroen-terologists. Additionally, education should be providedon the condition and activity limitations because repet-itive flexion/extension result in further cord tethering.Finally, collaboration between the referring primarycare PNP and neurosurgical PNP should be maintainedto coordinate care and remainupdatedon clinical statusto ensure that optimal care and treatment are provided.These patients may be seen in multidisciplinary clinicsdepending on their availability.

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Although operative procedures release the tetheredspinal cord, in some cases, clinical manifestations maystill persist because of irreversible nerve damage that

PNPs shouldmonitor patients forthe development ofearly symptomsthat suggest cordretethering orprogressiveworsening ofsymptoms.

is sustained. Thereforesome children may stillexperience urinary in-continence, difficultywith ambulation, orother clinical mani-festations. PNPs mayprescribe adaptiveequipment or refersuch patients to a phys-iatrist, physical therapy,occupational therapy,early intervention (ifthe patient is younger

than 3 years), or social work for remediation. The goalis to aid with physical and developmental impairmentsto achieve the best possible level of functioning foreach individual.

Long-term surveillance is imperative. During routinewell-child visits, it is important that PNPs closelymonitor high-risk patients, particularly those who un-derwent lumbosacral spinal surgery for spinal dysra-phism or tethered cord, especially during growthspurts. PNPs should monitor patients for the develop-ment of early symptoms that suggest cord retetheringor progressive worsening of symptoms. Encouragingregular follow-up with subspecialists and ensuring ad-equate communication between the subspecialist andthe primary PNP is critical.

The psychosocial effects experienced by patientswith TCS should be evaluated at every visit. The PNPshould assess each patient’s strengths, weaknesses, de-velopmental level, social situation, environmental con-straints, and family strengths to ensure optimal supportand treatment. Interventions include educating thefamily and patient about the condition, providing an-swers to questions, scheduling regular follow-up visits,referring patients to therapists or community supportgroups, and/or collaborating with the patient’s schoolto ensure that a supportive environment is provided(Perrin, Gnanasekaran, & Delahaye, 2012).

The PNP provides primary care bymeeting the needsthat are specific to each patient. Optimal care requiresopen communication with subspecialists, adequatefamily support, and patient advocacy. The PNP needsto stay up to date with current research on TCS and in-corporate themost recent evidence into the clinical set-ting to ensure that quality care is provided to eachpatient (Figure 4). The ultimate goal of the primarycare PNP and the neurosurgical PNP is to ensure opti-mal growth and development and that functional andmedical needs are met through a family-centered andmultidisciplinary team.

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CONCLUSIONDiagnosing and managing TCS remains a challenge formany providers. Despite the evolving definition of TCS,the exact etiology is variable and not well understood.To date no definitive guidelines exist with respect todiagnosis and treatment. Despite the inconsistency inpresentation and diagnostic findings, it is vital thatPNPs be familiar with the distinct findings and recog-nize TCS in its early stages to provide necessary man-agement and help prevent irreversible damage,reverse deficits, and ultimately improve the quality oflife of each affected pediatric patient.

We thank Chris Montague for assisting us with histechnical artistic ability.

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